메뉴 건너뛰기




Volumn 84, Issue 6, 2006, Pages 781-785

Ocular findings in four children with mucopolysaccharidosis I-Hurler (MPS I-H) treated early with haematopoietic stem cell transplantation

Author keywords

Cornea; Esotropia; Hurler; Hyperopia; MPSI H; Mucopolysaccharidosis; Stem cell transplantation

Indexed keywords

GLYCOSAMINOGLYCAN;

EID: 33750627775     PISSN: 13953907     EISSN: 16000420     Source Type: Journal    
DOI: 10.1111/j.1600-0420.2006.00743.x     Document Type: Article
Times cited : (33)

References (24)
  • 1
    • 0033057414 scopus 로고    scopus 로고
    • Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III and VI
    • Alroy J, Haskins M & Birk DE (1999): Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III and VI. Exp Eye Res 68: 523-530.
    • (1999) Exp Eye Res , vol.68 , pp. 523-530
    • Alroy, J.1    Haskins, M.2    Birk, D.E.3
  • 4
    • 0037196873 scopus 로고    scopus 로고
    • White matter changes mimicking a leukodystrophy in a patient with mucopolysaccharidosis: Characterization by MRI
    • Barone R, Parano E, Trifiletti RR, Fiumara A & Pavone P (2002): White matter changes mimicking a leukodystrophy in a patient with mucopolysaccharidosis: Characterization by MRI. J Neurol Sci 195: 171-175.
    • (2002) J Neurol Sci , vol.195 , pp. 171-175
    • Barone, R.1    Parano, E.2    Trifiletti, R.R.3    Fiumara, A.4    Pavone, P.5
  • 5
    • 0025084744 scopus 로고
    • Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses
    • Collins ML, Traboulsi EI & Maumenee IH (1990): Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses. Ophthalmology 97: 1445-1449.
    • (1990) Ophthalmology , vol.97 , pp. 1445-1449
    • Collins, M.L.1    Traboulsi, E.I.2    Maumenee, I.H.3
  • 6
    • 33750627775 scopus 로고    scopus 로고
    • Ocular findings in four children with mucopolysaccharidosis I-Hurler (MPS I-H) treated early with haematopoietic stem cell transplantation
    • Doi: 10.1111/j.1600-0420.2006.00743.x
    • Fahnehjelm KT, Törnquist A-L, Malm G & Winiarski J (2006): Ocular findings in four children with mucopolysaccharidosis I-Hurler (MPS I-H) treated early with haematopoietic stem cell transplantation. Acta Ophthalmol Scand Doi: 10.1111/j.1600-0420.2006.00743.x.
    • (2006) Acta Ophthalmol Scand
    • Fahnehjelm, K.T.1    Törnquist, A.-L.2    Malm, G.3    Winiarski, J.4
  • 7
    • 0013811925 scopus 로고
    • Electroretinography and fundus oculi findings in Hurler's disease and allied mucopolysaccharidoses
    • Gills JP, Hobson R, Hanley WB & McKusick VA (1965): Electroretinography and fundus oculi findings in Hurler's disease and allied mucopolysaccharidoses. Arch Ophthalmol 74: 596-603.
    • (1965) Arch Ophthalmol , vol.74 , pp. 596-603
    • Gills, J.P.1    Hobson, R.2    Hanley, W.B.3    McKusick, V.A.4
  • 8
    • 0031926575 scopus 로고    scopus 로고
    • Follow-up of nine patients with Hurler syndrome after bone marrow transplantation
    • Guffon N, Souillet G, Maire I, Straczek J & Guibaud P (1998): Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. J Pediatr 133: 119-125.
    • (1998) J Pediatr , vol.133 , pp. 119-125
    • Guffon, N.1    Souillet, G.2    Maire, I.3    Straczek, J.4    Guibaud, P.5
  • 9
    • 0031834971 scopus 로고    scopus 로고
    • Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. Longer follow-up
    • Gullingsrud EO, Krivit W & Summers CG (1998): Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. Longer follow-up. Ophthalmology 105: 1099-1105.
    • (1998) Ophthalmology , vol.105 , pp. 1099-1105
    • Gullingsrud, E.O.1    Krivit, W.2    Summers, C.G.3
  • 10
    • 0019466750 scopus 로고
    • Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone marrow transplantation
    • Hobbs JR, Hugh-Jones K, Barrett AJ et.al. (1981): Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone marrow transplantation. Lancet 2: 709-712.
    • (1981) Lancet , vol.2 , pp. 709-712
    • Hobbs, J.R.1    Hugh-Jones, K.2    Barrett, A.J.3
  • 11
    • 0029634283 scopus 로고
    • Allogeneic bone marrow transplantation for lysosomal storage diseases
    • The European Group for Bone Marrow Transplantation
    • Hoogerbrugge PM, Brouwer OF, Bordigoni P et.al. (1995): Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Lancet 345: 1398-1402.
    • (1995) Lancet , vol.345 , pp. 1398-1402
    • Hoogerbrugge, P.M.1    Brouwer, O.F.2    Bordigoni, P.3
  • 12
    • 0029982078 scopus 로고    scopus 로고
    • Ultrastructural study of the cornea in a bone marrow-transplanted Hurler syndrome patient
    • Huang Y, Bron AJ, Meek KM, Vellodi A & McDonald B (1996): Ultrastructural study of the cornea in a bone marrow-transplanted Hurler syndrome patient. Exp Eye Res 62: 377-387.
    • (1996) Exp Eye Res , vol.62 , pp. 377-387
    • Huang, Y.1    Bron, A.J.2    Meek, K.M.3    Vellodi, A.4    McDonald, B.5
  • 14
    • 0040920369 scopus 로고    scopus 로고
    • Johns Hopkins University [Accessed 16 June 2006.]
    • Johns Hopkins University (2006): Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607014. [Accessed 16 June 2006.]
    • (2006) Online Mendelian Inheritance in Man
  • 15
    • 0037129038 scopus 로고    scopus 로고
    • Mucopolysaccharidoses. New therapeutic possibilities increase the need for early diagnosis
    • Malm G, Bondeson ML, von Döbeln U & Månsson JE (2002): [Mucopolysaccharidoses. New therapeutic possibilities increase the need for early diagnosis.] Läkartidningen 99: 1804-1809.
    • (2002) Läkartidningen , vol.99 , pp. 1804-1809
    • Malm, G.1    Bondeson, M.L.2    von Döbeln, U.3    Månsson, J.E.4
  • 16
    • 9044244531 scopus 로고    scopus 로고
    • Corneal endothelium in mucopolysaccharide storage disorders. Morphologic studies in animal models
    • Mollard RJ, Telegan P, Haskins M & Aguirre G (1996): Corneal endothelium in mucopolysaccharide storage disorders. Morphologic studies in animal models. Cornea 15: 25-34.
    • (1996) Cornea , vol.15 , pp. 25-34
    • Mollard, R.J.1    Telegan, P.2    Haskins, M.3    Aguirre, G.4
  • 17
    • 0027768324 scopus 로고
    • Nine-point corneal thickness measurements and keratometry readings in normal corneas using ultrasound pachymetry
    • Rapuano CJ, Fishbaugh JA & Strike DJ (1993): Nine-point corneal thickness measurements and keratometry readings in normal corneas using ultrasound pachymetry. Insight 18: 16-22.
    • (1993) Insight , vol.18 , pp. 16-22
    • Rapuano, C.J.1    Fishbaugh, J.A.2    Strike, D.J.3
  • 18
    • 0014305961 scopus 로고
    • Keratoplasty and electron microscopy of the cornea in systemic mucopolysaccharidosis (Hurler's disease)
    • Rosen DA, Haust MD, Yamashita T & Bryans AM (1968): Keratoplasty and electron microscopy of the cornea in systemic mucopolysaccharidosis (Hurler's disease). Can J Ophthalmol 3: 218-230.
    • (1968) Can J Ophthalmol , vol.3 , pp. 218-230
    • Rosen, D.A.1    Haust, M.D.2    Yamashita, T.3    Bryans, A.M.4
  • 19
    • 10744223978 scopus 로고    scopus 로고
    • Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
    • Souillet G, Guffon N, Maire I et.al. (2003): Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant 31: 1105-1117.
    • (2003) Bone Marrow Transplant , vol.31 , pp. 1105-1117
    • Souillet, G.1    Guffon, N.2    Maire, I.3
  • 23
    • 0027466761 scopus 로고
    • Longterm outcome of Hurler syndrome following bone marrow transplantation
    • Whitley CB, Belani KG, Chang PN et.al. (1993): Longterm outcome of Hurler syndrome following bone marrow transplantation. Am J Med Genet 46: 209-218.
    • (1993) Am J Med Genet , vol.46 , pp. 209-218
    • Whitley, C.B.1    Belani, K.G.2    Chang, P.N.3
  • 24
    • 17144399564 scopus 로고    scopus 로고
    • The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I
    • Wraith JE (2005): The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother 6: 489-506.
    • (2005) Expert Opin Pharmacother , vol.6 , pp. 489-506
    • Wraith, J.E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.